Flinders researchers find new marker for glaucoma

3:23 September 5, 2014

A person’s chance of developing glaucoma – the leading cause of blindness worldwide – could now be easier to predict following the discovery of three new disease-related genes by Flinders University researchers.

The findings, which have just been published in two papers in the prestigious international science journal Nature Genetics, identified changes in genes ABCA1, AFAP1 and GMDS that increase the risk of developing glaucoma.

Glaucoma is the collective name for eye diseases causing irreversible loss of peripheral vision, usually from too much pressure accumulating inside the eyeball. About one in 10 Australians over the age of 80 will develop glaucoma. At present, about half of all cases are undiagnosed.

The studies, led by Professor Jamie Craig from Flinders University’s Centre for Ophthalmology, Eye and Vision Research, analysed data from 1,155 patients on the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) – the world’s largest collection of advanced glaucoma cases – with the results compared against 2,000 samples from a control group.

The findings have also been verified by collaborators in the US, as well as an independent Chinese study which identified the gene ABCA1 as having a role in glaucoma in a large Asian population.

Professor Craig, who developed the ANZRAG, said that while there is a well-established family link in glaucoma, only a small number of disease-causing genes have been identified.

“We know there’s a strong hereditary component; first-degree relatives of glaucoma patients are actually nine times more likely to develop the disease, but the genes associated with the family link are not well known,” Professor Craig said.

“By understanding the disease at a genetic level, we’re developing a much clearer picture of the risk factors for glaucoma,” he said.

Professor Craig said the team is now working on a National Health and Medical Research Council funded project to determine the risk of people losing their vision if they develop glaucoma, based on the newly identified genetic markers.

By identifying people who are at a high risk of developing glaucoma, Professor Craig said clinicians will be better equipped to detect and treat the disease at an earlier stage to minimise vision loss, and also to prevent its progression in people with a family history.

“In general, people with glaucoma will do well if the disease is detected early and treated, but a lot of people don’t realise they have it until they lose their vision.

“If we can predict people who are particularly at-risk based on these genetic markers we could tailor treatments to them, potentially saving their sight in the future.

“Genetic research is, however, a long process, and it will take several years of further research before the role of these new genes can be fully understood.”

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